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NM_203290.4(POLR1C):c.88C>T (p.Pro30Ser) AND Leukodystrophy, hypomyelinating, 11

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000416459.1

Allele description

NM_203290.4(POLR1C):c.88C>T (p.Pro30Ser)

Gene:
POLR1C:RNA polymerase I and III subunit C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.1
Genomic location:
Preferred name:
NM_203290.4(POLR1C):c.88C>T (p.Pro30Ser)
HGVS:
  • NC_000006.12:g.43517324C>T
  • NG_028283.3:g.12623C>T
  • NM_203290.4:c.88C>T
  • NP_976035.1:p.Pro30Ser
  • NC_000006.11:g.43485062C>T
  • NM_203290.2:c.88C>T
  • NM_203290.3:c.88C>T
Protein change:
P30S
Links:
dbSNP: rs1057519455
NCBI 1000 Genomes Browser:
rs1057519455
Molecular consequence:
  • NM_203290.3:c.88C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Leukodystrophy, hypomyelinating, 11 (HLD11)
Identifiers:
MedGen: C4225305; Orphanet: 88637; OMIM: 616494

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000494197Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine
no assertion criteria provided
Pathogenicgermlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine, SCV000494197.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

This variant was identified in individual with developmental delay, intellectual disability, polymicrogyria, cardiomyopathy, and nystagmus. Dual molecular diagnoses involving POLR1C and SCN1B were identified.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 28, 2019